65-year old woman undergoing an urological surgical procedure (with an otherwise blank medical history) was found to have ECG abnormalities fitting left ventricular hypertrophy at pre-operative screening. She was sent to our outpatient clinic for pre-operative consultation. She has been free of any cardiac complaints. Physical examination was unremarkable (no signs of congestion, no murmurs, and a normal blood pressure). Family history revealed that the father of the patient was known with a “thick heart muscle” and was also treated for “heart rhythm disturbances”. He died at the age of 66 of non-cardiac causes. She has two healthy children. Conventional ultrasound and CMR findings are shown below and warranted genetic counseling revealing a mutation in the GLA (galactosidase alpha) gene. She was consequentlky diagnosed with Fabry`s disease.
2D echocardiography showed a severe concentric left ventricular hypertrophy with a maximal septal wall thickness of 18mm and a posterior wall thickness of 16mm. The LV systolic function by LVEF was normal (>60%). There were no valvular abnormalities. The RV was not dilated and also showed a moderate amount of hypertrophy. There was no LV outflow tract obstruction seen and no SAM.
There is a near mid-cavity obliteration at systole. This can also be appreciated with Color Doppler flow. The maximal flow velocity measured with continuous wave Doppler was 150 cm/sec. The registration below shows a combination of early systolic mitral regurgitation (indicated by the blue star) and the flow acceleration mid ventricular (arrow)
The following findings were encountered by deformation imaging. Our first analysis of the 3 apical views showed a severe reduction of global longitudinal strain (GLS), in this case -9.0% despite the LVEF of >60%. Segmental assessment of the LV clearly shows regional differences. While there is no segment with normal systolic strain values, the reduction of peak systolic strain values in the posterolateral region is even more pronounced (also showing marked post systolic shortening)
When putting focus on the 4-chamber view, the difference between the septal wall and the lateral wall is very clear. Note the severe hypertrophy od both the septal and the lateral wall. In the lateral wall, all three segments from base to apex show a reduction in peak systolic strain values (yellow circle), with even only positive systolic strain values at the mid lateral region indicating logitudinal streching (regions are indicated by the blue arrows in the lower left figure). This is accompanied by clear post systolic shortening (yellow arrow in top right graph). The deformation values and graph characteristics of the septal segments are moderately reduced even though there is also severe hypertrophy at this region.
The marked regional differences in deformation values and characteristics is also seen between the posterior and anteroseptal wall. These findings are very suggestive of Faby`s disease where the posterolateral region has been shown to be the most affected, while the entire LV shows concentric hypertrophy
Cardiac magnetic resonance imaging
CMR also showed the severe LV hypertrophy (septal wall thickness of 18mm and a LVmass of 120 gr/m2). In addition RV hypertrophy was also seen. Still images from the sine recordings at end diastole and end systole are provided below. The complete obliteration of the LV cavity can be clearly seen at the mid ventricular short axis view.
The delayed enhancement recordings showed some accumulation of gadolinium at the posterolateral region (indicated by the blue arrow in the 4 chamber and short axis views)